Incidental Mutation 'R0548:Or4c120'
ID 44949
Institutional Source Beutler Lab
Gene Symbol Or4c120
Ensembl Gene ENSMUSG00000101918
Gene Name olfactory receptor family 4 subfamily C member 120
Synonyms Olfr1225, GA_x6K02T2Q125-50650037-50649102, MOR233-11
MMRRC Submission 038740-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R0548 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89000563-89001589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89000992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 188 (C188F)
Ref Sequence ENSEMBL: ENSMUSP00000150915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188861] [ENSMUST00000216961] [ENSMUST00000217054]
AlphaFold Q7TR01
Predicted Effect probably damaging
Transcript: ENSMUST00000099791
AA Change: C188F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097379
Gene: ENSMUSG00000075098
AA Change: C188F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 4e-47 PFAM
Pfam:7tm_1 39 304 2.7e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188861
AA Change: C188F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140442
Gene: ENSMUSG00000101918
AA Change: C188F

DomainStartEndE-ValueType
low complexity region 24 32 N/A INTRINSIC
Pfam:7tm_1 39 289 5.5e-24 PFAM
Pfam:7tm_4 138 287 2.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216961
AA Change: C188F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217054
AA Change: C188F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5084 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (62/64)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T G 8: 41,279,504 (GRCm39) C632G probably damaging Het
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Agfg1 A G 1: 82,864,152 (GRCm39) T447A probably damaging Het
Ankrd37 C T 8: 46,451,433 (GRCm39) probably null Het
Apob A T 12: 8,056,282 (GRCm39) D1555V probably damaging Het
Asxl3 T A 18: 22,654,849 (GRCm39) probably benign Het
Brca2 C A 5: 150,468,400 (GRCm39) D2242E probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdk5rap2 A T 4: 70,267,379 (GRCm39) probably null Het
Cox10 A T 11: 63,867,178 (GRCm39) Y273N probably damaging Het
Dcbld2 A T 16: 58,275,508 (GRCm39) D408V probably damaging Het
Enam A T 5: 88,650,964 (GRCm39) E824D probably damaging Het
Epm2aip1 T C 9: 111,102,409 (GRCm39) Y461H probably damaging Het
Fam72a T A 1: 131,461,599 (GRCm39) S95T probably damaging Het
Fiz1 A T 7: 5,012,167 (GRCm39) V117D possibly damaging Het
Gm10355 C T 3: 101,214,376 (GRCm39) noncoding transcript Het
Gm11595 A T 11: 99,662,967 (GRCm39) C238S unknown Het
Gm7589 T G 9: 59,053,439 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,073 (GRCm39) V771E probably damaging Het
Htt T C 5: 35,028,090 (GRCm39) L1782P probably damaging Het
Il33 T C 19: 29,932,047 (GRCm39) S147P probably benign Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Lrp2 G A 2: 69,367,982 (GRCm39) probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Map1b T C 13: 99,568,191 (GRCm39) K1510R unknown Het
Marco T C 1: 120,419,767 (GRCm39) T187A probably benign Het
Mki67 A T 7: 135,298,637 (GRCm39) N2132K possibly damaging Het
Mki67 T A 7: 135,296,985 (GRCm39) K2683M probably damaging Het
Mmp15 T C 8: 96,098,979 (GRCm39) V602A probably damaging Het
Mphosph10 T A 7: 64,028,548 (GRCm39) M536L probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
N4bp2 G T 5: 65,965,496 (GRCm39) V1182L probably benign Het
Nlrc5 C A 8: 95,248,411 (GRCm39) F1715L probably null Het
Nsd2 T A 5: 34,050,882 (GRCm39) V1253E probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or2a52 T A 6: 43,144,121 (GRCm39) I43K probably benign Het
Or8g18 A T 9: 39,149,667 (GRCm39) S18T probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pi4ka A T 16: 17,125,582 (GRCm39) N4K possibly damaging Het
Plxna4 A T 6: 32,134,950 (GRCm39) I1751N probably damaging Het
Postn C A 3: 54,274,997 (GRCm39) S122* probably null Het
Ppp4r4 A T 12: 103,579,074 (GRCm39) R762* probably null Het
Rrm1 G T 7: 102,116,274 (GRCm39) probably null Het
Rrp15 A G 1: 186,468,431 (GRCm39) V195A probably benign Het
Rtl1 T A 12: 109,558,089 (GRCm39) D1250V probably damaging Het
Rxrg T C 1: 167,458,788 (GRCm39) probably benign Het
Scn10a T C 9: 119,494,994 (GRCm39) K416E probably benign Het
Serping1 T C 2: 84,600,425 (GRCm39) probably benign Het
Slc12a6 T C 2: 112,166,269 (GRCm39) probably null Het
Smo A T 6: 29,759,585 (GRCm39) Q639L possibly damaging Het
Synrg T C 11: 83,873,014 (GRCm39) probably benign Het
Tars2 T C 3: 95,649,971 (GRCm39) D470G probably damaging Het
Tln1 T C 4: 43,542,709 (GRCm39) N1399S possibly damaging Het
Tmem131 A G 1: 36,877,119 (GRCm39) V240A probably damaging Het
Tmem232 G A 17: 65,689,615 (GRCm39) T500I probably benign Het
Toporsl G A 4: 52,612,140 (GRCm39) V678M possibly damaging Het
Vmn1r7 A T 6: 57,002,066 (GRCm39) F65I probably damaging Het
Wdfy4 C T 14: 32,764,578 (GRCm39) M2257I probably benign Het
Wdr20rt T A 12: 65,274,089 (GRCm39) D344E probably benign Het
Xirp2 C T 2: 67,344,758 (GRCm39) A2333V probably benign Het
Zfyve16 T C 13: 92,631,452 (GRCm39) K1381R probably benign Het
Zscan18 G T 7: 12,508,103 (GRCm39) P466T probably damaging Het
Other mutations in Or4c120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03230:Or4c120 APN 2 89,001,433 (GRCm39) missense possibly damaging 0.53
IGL03381:Or4c120 APN 2 89,001,523 (GRCm39) missense possibly damaging 0.49
IGL03147:Or4c120 UTSW 2 89,001,316 (GRCm39) missense probably benign 0.03
PIT4458001:Or4c120 UTSW 2 89,000,977 (GRCm39) missense probably benign 0.02
R0100:Or4c120 UTSW 2 89,001,431 (GRCm39) missense probably benign 0.00
R0373:Or4c120 UTSW 2 89,000,757 (GRCm39) missense probably benign 0.02
R0482:Or4c120 UTSW 2 89,000,975 (GRCm39) missense probably benign 0.37
R0491:Or4c120 UTSW 2 89,000,704 (GRCm39) missense probably benign 0.07
R1123:Or4c120 UTSW 2 89,001,212 (GRCm39) missense possibly damaging 0.89
R1511:Or4c120 UTSW 2 89,001,281 (GRCm39) missense probably damaging 1.00
R1565:Or4c120 UTSW 2 89,000,971 (GRCm39) missense probably benign 0.01
R4204:Or4c120 UTSW 2 89,001,124 (GRCm39) missense probably benign 0.13
R4580:Or4c120 UTSW 2 89,001,544 (GRCm39) missense probably benign 0.01
R4669:Or4c120 UTSW 2 89,001,245 (GRCm39) missense probably damaging 1.00
R5137:Or4c120 UTSW 2 89,000,744 (GRCm39) missense probably benign 0.00
R6391:Or4c120 UTSW 2 89,000,942 (GRCm39) missense probably benign 0.03
R6396:Or4c120 UTSW 2 89,001,034 (GRCm39) missense probably damaging 0.99
R7103:Or4c120 UTSW 2 89,000,827 (GRCm39) missense possibly damaging 0.77
R7187:Or4c120 UTSW 2 89,001,714 (GRCm39) start gained probably benign
R7394:Or4c120 UTSW 2 89,000,705 (GRCm39) missense probably benign
R7758:Or4c120 UTSW 2 89,001,485 (GRCm39) missense probably benign 0.00
R8073:Or4c120 UTSW 2 89,001,284 (GRCm39) missense probably damaging 0.99
R9012:Or4c120 UTSW 2 89,000,929 (GRCm39) missense possibly damaging 0.90
R9632:Or4c120 UTSW 2 89,001,752 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGAGCAATGGGGTCAACACTGTG -3'
(R):5'- ACTCTTCCATCATGAACCGGAGGC -3'

Sequencing Primer
(F):5'- GGTCAACACTGTGGTAAATACAAC -3'
(R):5'- ATGAACCGGAGGCTCTGTG -3'
Posted On 2013-06-11